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Functional promoter polymorphism in SREBP cleavage-activating protein (SCAP).

Abstract：

:We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report additional common single-nucleotide polymorphisms in the SCAP promoter and coding sequence that were identified by using direct sequencing to screen the genomic DNA of subjects with combined hyperlipidemia. These markers might be useful for studies of association with metabolic phenotypes.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Cao H,Miskie BA,Hegele RA

doi

10.1007/s100380200072

keywords:

subject

Has Abstract

pub_date

2002-01-01 00:00:00

pages

492-6

issue

9

eissn

1434-5161

issn

1435-232X

journal_volume

47

pub_type

杂志文章

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